Here is something I read on the Johns Hopkins HD research page. ~~~~~~~~~~~~~~~~~~~~ Is there another syndrome caused by changes in the RET gene? Multiple Endocrine Neoplasia Type 2 (MEN2) is an inherited cancer syndrome. People who have MEN2 are at increased risk to get medullary thyroid cancer (MTC), pheochromocytoma (tumor of the adrenal gland), [...]

The blood work ordered by CHOP came back a little funky. His TSH was a 5 and should be below 3, according to endo. It might be because he recently had a very very little cold. We will repeat in 3 mos and see if it stays, goes higher or lower. If it goes any [...]

Went down to CHOP yesterday. Long story short they said I shouldn’t be to worried about the nodule. It is very very small and does not look suspicious. They took some blood to test his thyroid function. Dr. is also contacting a colleague down at Johns Hopkins who specializes in MEN 2a and will touch base w/ her regarding Joey’s specific RET mutation. We will go back in a year to do another u/s and blood to make sure nothing is changing/growing. With two doctors telling us to wait and watch that is what we will do now.

So we went to ped endo to have a thyroid ‘check-up’ due to Joey’s RET mutation. His blood labs came back OK but w/ two levels that were on the high end of normal. Then the shocking news. He has a nodule (6mm) on the right lobe of thyroid. We were very upset hearing this. [...]

Joey’s genetic testing results came back. He has a mutation on the RET gene (exon 2). Apparently a mutation on this exon has never been seen before and the lab who did the test offered to test Joe and I free of charge. Mutations on RET gene can be related to an endocrine disorder called [...]